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A prior report on hypothermia for neonatal hypoxic–ischemic encephalopathy showed a reduced rate of death or disability at 18 to 22 months of age. In this report of outcomes at 6 to 7 years, rates of death or an IQ below 70 were nonsignificantly lower with hypothermia than with usual care. Moderate or severe neonatal hypoxic–ischemic encephalopathy is associated with a high incidence of death or motor and sensory disability in children. 1 – 5 Children with encephalopathy are at risk for cognitive deficits even in the absence of functional deficits. Survivors without disability have delayed entry into primary school and fine-motor dysfunction and behavioral abnormalities. Hypothermia to 33 to 34°C for 72 hours, when initiated within 6 hours after birth among infants of more than 35 weeks' gestational age with hypoxic–ischemic encephalopathy, has been shown to reduce the risk of death or disability and increase the rate of survival free of disability . . .

In this randomized trial, antenatal screening (at a median gestational age of 12 weeks 3 days) and treatment for hypothyroidism did not result in improved cognitive function in children at 3 years of age. Active secretion of thyroid hormone in the fetus does not start until about 18 to 20 weeks' gestation. 1 Studies in animals suggest that until fetal hormone secretion begins, the fetus is dependent on circulating free thyroxine (T 4 ) in the mother for growth and development, including central nervous system maturation. 1 Iodine is essential for free T 4 synthesis, and in iodine-deficient populations, an increase in cognitive performance has been observed after iodine supplementation before pregnancy. 2 – 4 High levels of thyrotropin in women during pregnancy have been associated with impaired cognitive development in their offspring. This finding suggests that antenatal . . .

Focal cortical dysplasia (FCD) type II is an important cause of drug-resistant epilepsy. Clinical presentation is variable, and depends on age of onset of seizures and the location and size of lesion. As FCD type II cannot be diagnosed with certainty in the clinic, in vivo identification by use of MRI is important. Diagnosis will have a major effect on management of this pathology as it should prompt referral for specialist assessment. Drug treatment commonly proves ineffective, whereas appropriate surgical treatment can be curative in many cases. The dramatic cellular anomalies of FCD seen at histopathology indicate a widespread pattern of molecular disruption underpinning the structural disorganisation of the cortex. The cause for FCD has not been firmly established, and there are no explanations for its potent intrinsic ability to cause seizures. There seem to be both neurodevelopmental abnormalities and possible premature neurodegeneration in FCD. Understanding the coordination of the abnormal processes in FCD type II might help to promote improved detection in vivo, direct treatment strategies, and perhaps help explain the development, differentiation, and loss of brain cells, with broad implications for the epilepsies and other neurological disorders.

Background Organic acidurias (OADs) and urea cycle disorders (UCDs) are inborn metabolic disorders with a risk for acute and chronic metabolic decompensation resulting in impairments of the central nervous system and other organ systems. So far, there is no systematic study of intellectual functioning, behavioural/emotional problems and health-related quality of life (HRQoL), and how these domains are connected. Methods Data of 152 patients with OADs ( n  = 100) and UCDs ( n  = 52) from the European Registry and Network of intoxication type Metabolic Diseases (E-IMD) using standardized instruments were compared with normative data. Results Behavioural/emotional problems are increased in OADs or UCDs patients by a factor of 2.5 (3.0), in female asymptomatic carriers of X-linked inherited UCD ornithine transcarbamylase deficiency (fasOTCD) by a factor of 1.5. All groups show similar patterns of behavioural/emotional problems, not different from epidemiological data. Mental disability (IQ ≤ 70) was found in 31 % of OAD, 43 % of UCD, but not in fasOTCD subjects. HRQoL was decreased in the physical domain, but in the normal range. Behavioural/emotional problems were significantly associated with intellectual functioning (OR = 6.24, 95 %CI: 1.39–27.99), but HRQoL was independent from both variables. Conclusions Patients with OADs and UCDs show increased frequencies of mental disability and behavioural/emotional problems. Profiles of behavioural/emotional problems were similar to epidemiological data. Intellectual disability and behavioural/emotional problems were strongly associated. Patients’ HRQoL was in the normal range, possibly compensated by coping strategies of their families. Diagnostics and clinical care of OAD/UCD patients should be improved regarding behavioural/emotional, intellectual and quality of life aspects.

Objective: Although high-grade intraventricular hemorrhage (IVH; grades III–IV) in preterm and low birth weight infants are clearly associated with increased risk of long-term adverse neurodevelopmental sequelae, the impact of low-grade IVH (grades I–II) has been less clear. Some studies have followed these infants through early school age and have shown some conflicting results regarding cognitive outcome. Such studies that assess children at younger ages may not accurately predict outcomes in later childhood, as it is known that fluid and crystallized intelligence peak at age 26 years. There is paucity of data in current medical literature, which correlates low-grade IVH with outcomes in early adulthood. To determine the link between the occurrence of low-grade IVH in low birth weight (birth weight ⩽2500 g) infants born prematurely (gestational age <37 weeks) and intellectual function, academic achievement, and behavioral problems to the age of 18 years. Study Design: This study is an analysis of data derived from the Infant Health and Development Program (IHDP), a multisite national collaborative study and a randomized controlled trial of education intervention for low birth weight infants from birth until 3 years of age with follow-up through 18 years of age. A total of 985 infants were enrolled in the IHDP. Of the 462 infants tested for IVH, 99 demonstrated sonographic evidence of low-grade IVH, whereas 291 showed no sonographic evidence of IVH. Several outcomes were compared between these two groups. Intelligence was assessed using Stanford–Binet Intelligence scales at age 3 years, Wechsler Intelligence Scale for Children (WISC-III) at age 8 years, Wechsler Abbreviated Scale of Intelligence (WASI) at age 18 years and Woodcock Johnson Tests of Achievement at age 8 and 18 years. Behavior was measured using the Achenbach Behavior Checklist at age 3 years and Child Behavior Checklist (CBCL) at age 8 and 18 years. Outcomes were compared between the IVH-positive and IVH-negative groups using analysis of covariance after adjusting for the presence or absence of intervention, birth weight, gestational age, gender, severity of neonatal course, race and maternal education. Results: No statistically significant difference in intelligence as measured by Stanford–Binet Intelligence scales, WISC-III, WASI and Woodcock–Johnson Tests of Achievement could be appreciated between IVH-positive patients and controls at any age group (36 months, 8 years and 18 years of age). In addition, there was no significant difference in problem behavior as assessed by the Achenbach Behavior Checklist and Child Behavior Checklist (CBCL) comparing IVH patients with controls. Conclusion: Low-grade IVH was not demonstrated in our study to be an independent risk factor associated with lower outcomes in intelligence, academic achievement or problem behavior at age 3, 8 and 18 years.

BackgroundKabuki syndrome (KS) is a clinically recognisable syndrome in which 70% of patients have a pathogenic variant in KMT2D or KDM6A. Understanding the function of these genes opens the door to targeted therapies. The purpose of this report is to propose diagnostic criteria for KS, particularly when molecular genetic testing is equivocal.MethodsAn international group of experts created consensus diagnostic criteria for KS. Systematic PubMed searches returned 70 peer-reviewed publications in which at least one individual with molecularly confirmed KS was reported. The clinical features of individuals with known mutations were reviewed.ResultsThe authors propose that a definitive diagnosis can be made in an individual of any age with a history of infantile hypotonia, developmental delay and/or intellectual disability, and one or both of the following major criteria: (1) a pathogenic or likely pathogenic variant in KMT2D or KDM6A; and (2) typical dysmorphic features (defined below) at some point of life. Typical dysmorphic features include long palpebral fissures with eversion of the lateral third of the lower eyelid and two or more of the following: (1) arched and broad eyebrows with the lateral third displaying notching or sparseness; (2) short columella with depressed nasal tip; (3) large, prominent or cupped ears; and (4) persistent fingertip pads. Further criteria for a probable and possible diagnosis, including a table of suggestive clinical features, are presented.ConclusionAs targeted therapies for KS are being developed, it is important to be able to make the correct diagnosis, either with or without molecular genetic confirmation.

The field of intellectual and developmental disabilities (IDD) is currently experiencing a significant transformation that encompasses an integrated approach, especially regarding shared aspects such as a focus on the human and legal rights, the eligibility for services and supports, and an emphasis on individualized supports provided within inclusive community-based environments. Accompanying this transformation is the increased need of precision in both the operational definitions of IDD-related constructs, and the terminology used to describe the respective construct. the specialized literature was revised, and previous works on the subject by the authors were updated. This article provides psychologists with the current definition of intellectual disability, operational definitions of intellectual disability and developmental disabilities constructs and associated terminology, and the parameters of an integrated approach to disability. Implications for psychologists who are involved in diagnosis, classification, and planning supports for persons with intellectual or developmental disability are discussed.

Immune abnormalities have been described in some individuals with autism spectrum disorders (ASDs) as well as their family members. However, few studies have directly investigated the role of prenatal cytokine and chemokine profiles on neurodevelopmental outcomes in humans. In the current study, we characterized mid-gestational serum profiles of 22 cytokines and chemokines in mothers of children with ASD ( N =415), developmental delay (DD) without ASD ( N =188), and general population (GP) controls ( N =428) using a bead-based multiplex technology. The ASD group was further divided into those with intellectual disabilities (developmental/cognitive and adaptive composite score<70) (ASD+ID, N =184) and those without (composite score⩾70) (ASD-noID, N =201). Levels of cytokines and chemokines were compared between groups using multivariate logistic regression analyses, adjusting for maternal age, ethnicity, birth country and weight, as well as infant gender, birth year and birth month. Mothers of children with ASD+ID had significantly elevated mid-gestational levels of numerous cytokines and chemokines, such as granulocyte macrophage colony-stimulating factor, interferon-γ, interleukin-1α (IL-1α) and IL-6, compared with mothers of children with either ASD-noID, those with DD, or GP controls. Conversely, mothers of children with either ASD-noID or with DD had significantly lower levels of the chemokines IL-8 and monocyte chemotactic protein-1 compared with mothers of GP controls. This observed immunologic distinction between mothers of children with ASD+ID from mothers of children with ASD-noID or DD suggests that the intellectual disability associated with ASD might be etiologically distinct from DD without ASD. These findings contribute to the ongoing efforts toward identification of early biological markers specific to subphenotypes of ASD.

Intellectual disability (ID) occurs in almost 3% of newborns. Despite substantial research, a fundamental question about its origin and links to intelligence (IQ) still remains. ID has been shown to be inherited and has been accepted as the extreme low of the normal IQ distribution. However, ID displays a complex pattern of inheritance. Previously, noninherited rare mutations were shown to contribute to severe ID risk in individual families, but in the majority of cases causes remain unknown. Common variants associated with ID risk in the population have not been systematically established. Here we evaluate the hypothesis, originally proposed almost 1 century ago, that most ID is caused by the same genetic and environmental influences responsible for the normal distribution of IQ, but that severe ID is not. We studied more than 1,000,000 sibling pairs and 9,000 twin pairs assessed for IQ and for the presence of ID. We evaluated whether genetic and environmental influences at the extremes of the distribution are different from those operating in the normal range. Here we show that factors influencing mild ID (lowest 3% of IQ distribution) were similar to those influencing IQ in the normal range. In contrast, the factors influencing severe ID (lowest 0.5% of IQ distribution) differ from those influencing mild ID or IQ scores in the normal range. Taken together, our results suggest that most severe ID is a distinct condition, qualitatively different from the preponderance of ID, which, in turn, represents the low extreme of the normal distribution of intelligence.